PMC Links for Nucleotide (Select 22255879) - PMC

Select item 11964401.

Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

Laura S. Schmidt, Michael L. Nickerson, Michelle B. Warren, Gladys M. Glenn, Jorge R. Toro, Maria J. Merino, Maria L. Turner, Peter L. Choyke, Nirmala Sharma, James Peterson, Patrick Morrison, Eamonn R. Maher, McClellan M. Walther, Berton Zbar, W. Marston Linehan

Am J Hum Genet. 2005 Jun; 76(6): 1023–1033. Published online 2005 Apr 25. doi: 10.1086/430842

PMCID:: PMC1196440

Abstract Article PDF–1.2M

Select item 39988922.

Folliculin Regulates Ampk-Dependent Autophagy and Metabolic Stress Survival

Elite Possik, Zahra Jalali, Yann Nouët, Ming Yan, Marie-Claude Gingras, Kathrin Schmeisser, Lorena Panaite, Fanny Dupuy, Dmitri Kharitidi, Laëtitia Chotard, Russell G. Jones, David H. Hall, Arnim Pause

PLoS Genet. 2014 Apr; 10(4): e1004273. Published online 2014 Apr 24. doi: 10.1371/journal.pgen.1004273

PMCID:: PMC3998892

Abstract Article PDF–5.3M

Select item 32341663.

The Folliculin Mutation Database: An Online Database of Mutations Associated with Birt-Hogg-Dubé Syndrome

Ming-Hui Wei, Patrick W. Blake, Julia Shevchenko, Jorge R. Toro

Hum Mutat. Author manuscript; available in PMC 2011 Dec 8.

Published in final edited form as: Hum Mutat. 2009 Sep; 30(9): E880–E890. doi: 10.1002/humu.21075

PMCID:: PMC3234166

Abstract Article PDF–1.2M

Select item 30753484.

Identification of Intragenic Deletions and Duplication in the FLCN Gene in Birt-Hogg-Dubé Syndrome

Jihane N. Benhammou, Cathy D. Vocke, Avni Santani, Laura S. Schmidt, Masaya Baba, Kuniaki Seyama, Xiaolin Wu, Susana Korolevich, Katherine L. Nathanson, Catherine A. Stolle, W. Marston Linehan

Genes Chromosomes Cancer. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Genes Chromosomes Cancer. 2011 Jun; 50(6): 466–477. Published online 2011 Mar 15. doi: 10.1002/gcc.20872

PMCID:: PMC3075348

Abstract Article PDF–528K

Select item 25979565.

Mutations of the Birt–Hogg–Dubé gene in patients with multiple lung cysts and recurrent pneumothorax

Yoko Gunji, Taeko Akiyoshi, Teruhiko Sato, Masatoshi Kurihara, Shigeru Tominaga, Kazuhisa Takahashi, Kuniaki Seyama

J Med Genet. 2007 Sep; 44(9): 588–593. Published online 2007 May 11. doi: 10.1136/jmg.2007.049874

PMCID:: PMC2597956

Abstract Article PDF–924K

Select item 25648626.

BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports

J R Toro, M-H Wei, G M Glenn, M Weinreich, O Toure, C Vocke, M Turner, P Choyke, M J Merino, P A Pinto, S M Steinberg, L S Schmidt, W M Linehan

J Med Genet. 2008 Jun; 45(6): 321–331. Published online 2008 Jan 30. doi: 10.1136/jmg.2007.054304

PMCID:: PMC2564862

Abstract Article PDF–1.4M

Select item 11964037.

A 4-bp Deletion in the Birt-Hogg-Dubé Gene (FLCN) Causes Dominantly Inherited Spontaneous Pneumothorax

Jodie N. Painter, Hanna Tapanainen, Mirja Somer, Pentti Tukiainen, Kristiina Aittomäki

Am J Hum Genet. 2005 Mar; 76(3): 522–527. Published online 2005 Jan 18. doi: 10.1086/428455

PMCID:: PMC1196403

Abstract Article PDF–147K

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